E47K (p.Glu47Lys) variant of ATL1 (Atlastin-1)
E47K (p.Glu47Lys) in ATL1 (Atlastin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
E47K (p.Glu47Lys) variant details
- p.Glu47Lys
- NCI-TCGA Cosmic COSV6329
- cosmic curated COSV63296
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available